New therapies in the management of Niemann-Pick type C disease: Clinical utility of miglustat

Therapeutics and Clinical Risk Management

Volumn 5, Issue 1, 2009, Pages 877-887

  Wraith, James E ^a   Imrie, Jackie ^a  

^a ROYAL MANCHESTER CHILDREN S HOSPITAL   (United Kingdom)

Author keywords

Miglustat; Niemann Pick disease type C; NP C; Zavesca

Indexed keywords

GLYCOSPHINGOLIPID; MIGLUSTAT;

ABDOMINAL PAIN; ATAXIA; AUTOSOMAL RECESSIVE INHERITANCE; CATAPLEXY; CLINICAL FEATURE; CONFUSION; CONSTIPATION; COUGHING; DEMENTIA; DIARRHEA; DISEASE COURSE; DRUG BIOAVAILABILITY; DRUG CLEARANCE; DRUG EFFECT; DRUG EFFICACY; DRUG HALF LIFE; DRUG MECHANISM; DRUG SAFETY; DRUG TOLERABILITY; DRUG WITHDRAWAL; DYSARTHRIA; DYSPHAGIA; DYSTONIA; EPISTAXIS; FALLING; FATIGUE; FLATULENCE; GAIT DISORDER; GAZE PARALYSIS; GENE; GENE MUTATION; HEADACHE; HEARING IMPAIRMENT; HUMAN; HYPERREFLEXIA; INSOMNIA; LETHARGY; LIPID TRANSPORT; NAUSEA; NERVE CONDUCTION; NEUROLOGIC DISEASE; NIEMANN PICK DISEASE; NONHUMAN; NPC1 GENE; NPC2 GENE; PARESTHESIA; PROSPECTIVE STUDY; PYRAMIDAL SIGN; RECOMMENDED DRUG DOSE; RESPIRATORY TRACT INFECTION; RETROSPECTIVE STUDY; REVIEW; RHINOPHARYNGITIS; SACCADIC EYE MOVEMENT; SIDE EFFECT; SINUSITIS; SLEEP DISORDER; SPLENOMEGALY; THROMBOCYTE COUNT; TIME TO MAXIMUM PLASMA CONCENTRATION; TREMOR; UPPER ABDOMINAL PAIN; VOMITING; WEIGHT REDUCTION;

EID: 77949469173     PISSN: 11766336     EISSN: 1178203X     Source Type: Journal    
DOI: 10.2147/tcrm.s5777     Document Type: Review

References (62)

1. Vanier MT, Millat G. Niemann-Pick disease type C. Clin Genet. 2003;64:269-281.
2. Meikle PJ, Hopwood JJ, Clague AE, Carey WF. Prevalence of lysosomal storage disorders. JAMA. 1999;281:249-254.
3. Wraith JE, Baumgartner MR, Bembi B, et al. Recommendations on the diagnosis and management of Niemann-Pick disease type C. Mol Genet Metab. 2009;98:152-165.
4. Carstea ED, Morris JA, Coleman KG, et al. Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis. Science. 1997;277:228-231.
5. Millat G, Bailo N, Molinero S, Rodriguez C, Chikh K, Vanier MT. Niemann-Pick C disease: use of denaturing high performance liquid chromatography for the detection of NPC1 and NPC2 genetic variations and impact on management of patients and families. Mol Genet Metab. 2005;86:220-232.
6. Naureckiene S, Sleat DE, Lackland H, et al. Identification of HE1 as the second gene of Niemann-Pick C disease. Science. 2000;290: 2298-2301.
7. Millat G, Chikh K, Naureckiene S, et al. Niemann-Pick disease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group. Am J Hum Genet. 2001;69:1013-1021.
8. Subramanian K, Balch WE. NPC1/NPC2 function as a tag team duo to mobilize cholesterol. Proc Natl Acad Sci U S A. 2008;105:15223-15224.
9. te Vruchte D, Lloyd-Evans E, Veldman RJ, et al. Accumulation of glycosphingolipids in Niemann-Pick C disease disrupts endosomal transport. J Biol Chem. 2004;279:26167-26175.
10. Mukherjee S, Maxfield FR. Lipid and cholesterol trafficking in NPC. Biochim Biophys Acta. 2004;1685:28-37.
11. Sleat DE, Wiseman JA, El-Banna M, et al. Genetic evidence for nonredundant functional cooperativity between NPC1 and NPC2 in lipid transport. Proc Natl Acad Sci U S A. 2004;101:5886-5891.
12. Sokol J, Blanchette-Mackie J, Kruth HS, et al. Type C Niemann-Pick disease. Lysosomal accumulation and defective intracellular mobilization of low density lipoprotein cholesterol. J Biol Chem. 1988;263:3411-3417.
13. Kwon HJ, Abi-Mosleh L, Wang ML, et al. Structure of N-terminal domain of NPC1 reveals distinct subdomains for binding and transfer of cholesterol. Cell. 2009;137:1213-1224.
14. Storch J, Xu Z. Niemann-Pick C2 (NPC2) and intracellular cholesterol trafficking. Biochim Biophys Acta. 2009;1791:671-678.
15. Patterson MC, Vanier MT, Suzuki K, et al. Niemann-Pick disease type C: a lipid trafficking disorder. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Vogelstein B, eds. The Metabolic and Molecular Bases of Inherited Disease. New York: McGraw-Hill; 2001:3611-3633.
16. Pentchev PG, Gal AE, Booth AD, et al. A lysosomal storage disorder in mice characterized by a dual deficiency of sphingomyelinase and glucocerebrosidase. Biochim Biophys Acta. 1980;619:669-679.
17. Rodriguez-Lafrasse C, Rousson R, Pentchev PG, Louisot P, Vanier MT. Free sphingoid bases in tissues from patients with type C Niemann-Pick disease and other lysosomal storage disorders. Biochim Biophys Acta. 1994;1226:138-144.
18. Vanier MT. Biochemical studies in Niemann-Pick disease. I. Major sphingolipids of liver and spleen. Biochim Biophys Acta. 1983;750:178-184.
19. Vanier MT. Lipid changes in Niemann-Pick disease type C brain: personal experience and review of the literature. Neurochem Res. 1999;24:481-489.
20. Wraith JE, Baumgartner MR, Bembi B, et al. Recommendations on the diagnosis and management of Niemann-Pick disease type C. Mol Genet Metab. 2009;98:152-165.
21. Philippart M, Engel J Jr, Zimmerman EG. Gelastic cataplexy in Niemann-Pick disease group C and related variants without generalized sphingomyelinase deficiency. Ann Neurol. 1983;14:492-483.
22. Kandt RS, Emerson RG, Singer HS, Valle DL, Moser HW. Cataplexy in variant forms of Niemann-Pick disease. Ann Neurol. 1982;12: 284-288.
23. Mellon SH, Gong W, Schonemann MD. Endogenous and synthetic neurosteroids in treatment of Niemann-Pick Type C disease. Brain Res Rev. 2008;57:410-420.
24. Liu B, Turley SD, Burns DK, Miller AM, Repa JJ, Dietschy JM. Reversal of defective lysosomal transport in NPC disease ameliorates liver dysfunction and neurodegeneration in the npc1-/- mouse. Proc Natl Acad Sci U S A. 2009. 2009;106:2377-2382.
25. Hsu YS, Hwu WL, Huang SF, et al. Niemann-Pick disease type C (a cellular cholesterol lipidosis) treated by bone marrow transplantation. Bone Marrow Transplant. 1999;24:103-107.
26. Choudhury A, Dominguez M, Puri V, et al. Rab proteins mediate Golgi transport of caveola-internalized glycosphingolipids and correct lipid trafficking in Niemann-Pick C cells. J Clin Invest. 2002;109: 1541-1850.
27. Walter M, Davies JP, Ioannou YA. Telomerase immortalization upregulates Rab9 expression and restores LDL cholesterol egress from Niemann-Pick C1 late endosomes. J Lipid Res. 2003;44:243-253.
28. Kaptzan T, West SA, Holicky EL, et al. Development of a Rab9 transgenic mouse and its ability to increase the lifespan of a murine model of Niemann-Pick type C disease. Am J Pathol. 2009;174:14-20.
29. Lloyd-Evans E, Morgan AJ, He X, et al. Niemann-Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium. Nat Med. 2008;14:1247-1255.
30. Platt FM, Neises GR, Dwek RA, Butters TD. N-butyldeoxynojirimycin is a novel inhibitor of glycolipid biosynthesis. J Biol Chem. 1994;269:8362-8365.
31. Wraith JE, Guffon N, Rohrbach M, et al. Natural history of Niemann-Pick disease type C in a multicentre observational retrospective cohort study. Mol Genet Metab. 2009;98:250-254.
32. Iturriaga C, Pineda M, Fernandez-Valero EM, Vanier MT, Coll MJ. Niemann-Pick C disease in Spain: clinical spectrum and development of a disability scale. J Neurol Sci. 2006;249:1-6.
33. Imrie J, Dasgupta S, Besley GT, et al. The natural history of Niemann-Pick disease type C in the UK. J Inherit Metab Dis. 2007;30:51-59.
34. Oyama K, Takahashi T, Shoji Y, et al. Niemann-Pick disease type C: cataplexy and hypocretin in cerebrospinal fluid. Tohoku J Exp Med. 2006;209:263-267.
35. Paciorkowski AR, Westwell M, Ounpuu S, et al. Motion analysis of a child with Niemann-Pick disease type C treated with miglustat. Mov Disord. 2008;23:124-128.
36. Schiffmann R. Niemann-Pick disease type C. From bench to bedside. JAMA. 1996;276:561-564.
37. Yanjanin NM, Velez JI, Gropman A, et al. Linear clinical progression, independent of age of onset, in Niemann-Pick disease, type C. Am J Med Genet B Neuropsychiatr Genet. 2009. [Epub ahead of print] May 4. DOI:10.1002/ajmg.b.30969.
38. Garver WS, Francis GA, Jelinek D, et al. The National Niemann-Pick C1 disease database: report of clinical features and health problems. Am J Med Genet A. 2007;143:1204-1211.
39. Folstein MF, Folstein SE, McHugh PR. "Mini-mental state". A practical method for grading the cognitive state of patients for the clinician. J Psychiatr Res. 1975;12:189-198.
40. Dubois B, Slachevsky A, Litvan I, Pillon B. The FAB: a Frontal Assessment Battery at bedside. Neurology 2000;55:1621-1626.
41. Galanaud D, Tourbah A, Lehéricy S, et al. 24 month-treatment with miglustat of three patients with Niemann-Pick disease type C: Follow up using brain spectroscopy. Mol Genet Metab. 2008;96:55-58.
42. Abel LA, Walterfang M, Fietz M, Bowman EA, Velakoulis D. Saccades in adult Niemann-Pick disease type C reflect frontal, brainstem, and biochemical deficits. Neurology. 2009;72:1083-1086.
43. Patterson MC, Vecchio D, Prady H, Abel L, Wraith JE. Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study. Lancet Neurol. 2007;6:765-772.
44. Lachmann RH, te Vruchte D, Lloyd-Evans E, et al. Treatment with miglustat reverses the lipid-trafficking defect in Niemann-Pick disease type C. Neurobiol Dis. 2004;16:654-658.
45. Lloyd-Evans E, Pelled D, Riebeling C, et al. Glucosylceramide and glucosylsphingosine modulate calcium mobilization from brain microsomes via different mechanisms. J Biol Chem. 2003;278:23594-23599.
46. Heitner R, Elstein D, Aerts J, Weely S, Zimran A. Low-dose N-butyldeoxynojirimycin (OGT 918) for type I Gaucher disease. Blood Cells Mol Dis. 2002;28:127-133.
47. Miglustat (Zavesca®) summary of product characteristics. EMEA, 2009. URL: http://www.emea.europa.eu/humandocs/PDFs/EPAR/zavesca/H-435-PI-en.pdf. Accessed 15 May, 2009.
48. Treiber A, Morand O, Clozel M. The pharmacokinetics and tissue distribution of the glucosylceramide synthase inhibitor miglustat in the rat. Xenobiotica. 2007;37:298-314.
49. Cox T, Lachmann R, Hollak C, et al. Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis. Lancet. 2000;355:1481-1485.
50. Zervas M, Somers KL, Thrall MA, Walkley SU. Critical role for glycosphingolipids in Niemann-Pick disease type C. Curr Biol. 2001;11:1283-1287.
51. Patterson P, Vecchio D, Jacklin E, et al. Long-term miglustat therapy in children with Niemann-Pick disease type C. J Child Neurol. In press. 2009.
52. Patterson MC, Vecchio D, Jacklin E, Wraith JE. Miglustat in Niemann-Pick disease Type C (NPC): long-term data from a clinical trial. 58th Annual Meeting of the American Society of Human Genetics. Philadelphia, USA; 2008.
53. Pineda M, Wraith JE, Mengel E, et al. Miglustat in patients with Niemann-Pick Type C disease (NP-C): a multicentre observational retrospective cohort study. Mol Genet Metab. 2009;98:243-249.
54. Vanier MT, Wenger DA, Comly ME, Rousson R, Brady RO, Pentchev PG. Niemann-Pick disease group C: clinical variability and diagnosis based on defective cholesterol esterification. A collaborative study on 70 patients. Clin Genet. 1988;33:331-348.
55. Chien YH, Lee NC, Tsai LK, et al. Treatment of Niemann-Pick disease type C in two children with miglustat: initial responses and maintenance of effects over 1 year. J Inherit Metab Dis. 2007;30:826.
56. Santos ML, Raskin S, Telles DS, et al. Treatment of a child diagnosed with Niemann-Pick disease type C with miglustat: A case report in Brazil. J Inherit Metab Dis. 2008. [Epub ahead of print] Oct 21. DOI:10.1007/s10545- 008-0923-9.
57. Pineda M, Wraith JE, Wijburg FA, et al. Designing a disease registry for Niemann-Pick disease type C. 19th Meeting of the European Neurological Society (ENS). Milan, Italy; 2009.
58. Pastores GM, Barnett NL, Kolodny EH. An open-label, noncomparative study of miglustat in type I Gaucher disease: efficacy and tolerability over 24 months of treatment. Clin Ther. 2005;27: 1215-1227.
59. Elstein D, Dweck A, Attias D, et al. Oral maintenance clinical trial with miglustat for type I Gaucher disease: switch from or combination with intravenous enzyme replacement. Blood. 2007;110: 2296-2301.
60. Pineda M, Wraith JE, Mengel E, Imrie J, Schwierin B, Bembi B. Safety monitoring of miglustat in patients with Niemann-Pick disease type C. 19th Meeting of the European Neurological Society (ENS). Milan, Italy; 2009.
61. Bone W, Walden CM, Fritsch M, et al. The sensitivity of murine spermiogenesis to miglustat is a quantitative trait: a pharmacogenetic study. Reprod Biol Endocrinol. 2007;5:1.
62. Amory JK, Muller CH, Page ST, et al. Miglustat has no apparent effect on spermatogenesis in normal men. Hum Reprod. 2007;22: 702-707.